A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606576



Internal ID16393985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550984..31552257hg38UCSC Ensembl
Innerchr7:31590598..31591871hg19UCSC Ensembl
Innerchr7:31557123..31558396hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381274
hg191274
hg181274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11268n54
Supporting Variantsnssv1082605, nssv1082608, nssv1082612, nssv1082621, nssv1082622, nssv1082613, nssv1082615, nssv1082616, nssv1082598, nssv1082620, nssv1082600, nssv1082602, nssv1082594, nssv1082614, nssv1082603, nssv1082618, nssv1082617, nssv1082606, nssv1082596, nssv1082625, nssv1082597, nssv1082623, nssv1082611, nssv1082595, nssv1082607, nssv1082624, nssv1082610, nssv1082599, nssv1082604, nssv1082609, nssv1082601, nssv1082619
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606576
Frequency
Sample Size17421
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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